Canonical Allele Identifier: CA2842402400

Gene: SLC37A4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026674dup , CM000673.2:g.119026674dup	GRCh38
NC_000011.9:g.118897384dup , CM000673.1:g.118897384dup	GRCh37
NC_000011.8:g.118402594dup	NCBI36
NG_013331.1:g.9232dup , LRG_187:g.9232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+263dup
ENST00000697845.1:n.1201dup
ENST00000697846.1:n.1014+263dup
ENST00000697847.1:n.1029dup
ENST00000697848.1:n.1029dup
ENST00000697849.1:n.2316dup
ENST00000697850.1:n.1029dup
ENST00000697851.1:n.2637dup
ENST00000638186.1:n.1103dup
ENST00000638360.1:n.935dup
ENST00000638925.1:n.1036dup
ENST00000650539.1:n.1205dup
ENST00000330775.9:c.799dup	ENSP00000476242.2:p.Ser267LysfsTer?
ENST00000357590.9:c.799dup	ENSP00000476176.2:p.Ser267LysfsTer?
ENST00000524428.5:n.1106+263dup
ENST00000525039.5:n.1223dup
ENST00000525102.5:n.1557dup
ENST00000525372.5:n.800dup
ENST00000526275.5:n.1581dup
ENST00000527992.5:n.1027dup
ENST00000529510.5:n.558+263dup
ENST00000530407.5:n.949dup
ENST00000532085.1:n.3658dup
ENST00000532888.6:n.1343dup
ENST00000538950.5:c.580dup	ENSP00000475991.2:p.Ser194LysfsTer?
ENST00000545985.5:c.799dup	ENSP00000475241.2:p.Ser267LysfsTer?
NM_001164277.1:c.799dup , LRG_187t1:c.799dup	NP_001157749.1:p.Ser267LysfsTer?
NM_001164278.1:c.799dup	NP_001157750.1:p.Ser267LysfsTer?
NM_001164279.1:c.580dup	NP_001157751.1:p.Ser194LysfsTer?
NM_001164280.1:c.799dup	NP_001157752.1:p.Ser267LysfsTer?
NM_001467.5:c.799dup	NP_001458.1:p.Ser267LysfsTer?
NM_001164278.2:c.799dup	NP_001157750.1:p.Ser267LysfsTer?
NM_001164279.2:c.580dup	NP_001157751.1:p.Ser194LysfsTer?
NM_001164280.2:c.799dup	NP_001157752.1:p.Ser267LysfsTer?
NM_001467.6:c.799dup	NP_001458.1:p.Ser267LysfsTer?
NM_001164277.2:c.799dup MANE Select	NP_001157749.1:p.Ser267LysfsTer?